chr3:148708685:T>C Detail (hg38) (AGTR1)

Information

Genome

Assembly Position
hg19 chr3:148,426,472-148,426,472 View the variant detail on this assembly version.
hg38 chr3:148,708,685-148,708,685

HGVS

Type Transcript Protein
RefSeq NM_000685.4:c.-48+658T>C
NM_031850.3:c.-48+658T>C
NM_004835.4:c.-106+10558T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.380
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 106165 OMIM
HGNC 336 HGNC
Ensembl ENSG00000144891 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14613405 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.265 Non-alcoholic Fatty Liver Disease Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase ... BeFree 23484035 Detail
Annotation

Annotations

DescrptionSourceLinks
Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase domain-containing 3 ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3772630 dbSNP
Genome
hg38
Position
chr3:148,708,685-148,708,685
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3772630
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.38
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6369
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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